{
  "id": 21665,
  "label": "oculopharyngodistal myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0025193",
  "properties": {
    "xrefs": [
      "DOID:0081296",
      "GARD:0012592",
      "MEDGEN:320250",
      "MESH:C563508",
      "NANDO:1200219",
      "OMIMPS:164310",
      "Orphanet:98897",
      "SCTID:763829004",
      "UMLS:C1834014",
      "icd11.foundation:1493269618"
    ],
    "synonyms": [
      "OPDM",
      "oculopharyngeal distal myopathy",
      "oculopharyngodistal myopathy",
      "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16732,
      "label": "progressive muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020360",
          "MEDGEN:1633060",
          "Orphanet:206644",
          "UMLS:C4551827"
        ],
        "synonyms": [
          "progressive muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0016106"
    },
    {
      "id": 18871,
      "label": "distal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11720",
          "GARD:0018699",
          "MEDGEN:155541",
          "NANDO:1200216",
          "NCIT:C84675",
          "OMIMPS:160500",
          "Orphanet:599",
          "SCTID:58795000",
          "UMLS:C0751336",
          "icd11.foundation:596283352"
        ],
        "synonyms": [
          "distal muscular dystrophy",
          "distal myopathy",
          "Miyoshi muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands."
      },
      "child_count": 11,
      "reference_id": "MONDO:0018949"
    }
  ],
  "children": [
    {
      "id": 20192,
      "label": "oculopharyngodistal myopathy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21665
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081297",
          "GARD:0015097",
          "MEDGEN:1684682",
          "NANDO:1200219",
          "OMIM:164310",
          "UMLS:C5231388"
        ],
        "synonyms": [
          "oculopharyngodistal myopathy",
          "OPDM1",
          "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement",
          "oculopharyngodistal myopathy 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020793"
    },
    {
      "id": 21264,
      "label": "oculopharyngodistal myopathy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21665
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081299",
          "GARD:0025376",
          "MEDGEN:1794166",
          "OMIM:619473",
          "UMLS:C5561956"
        ],
        "synonyms": [
          "OPDM3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023671"
    },
    {
      "id": 21857,
      "label": "oculopharyngodistal myopathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21665
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081298",
          "GARD:0016397",
          "MEDGEN:1718769",
          "OMIM:618940",
          "UMLS:C5394548"
        ],
        "synonyms": [
          "OCULOPHARYNGODISTAL MYOPATHY 2",
          "OPDM2",
          "oculopharyngodistal myopathy 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030134"
    },
    {
      "id": 22016,
      "label": "oculopharyngodistal myopathy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21665
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081300",
          "GARD:0025620",
          "MEDGEN:1809981",
          "OMIM:619790",
          "UMLS:C5676941"
        ],
        "synonyms": [
          "OPDM4",
          "oculopharyngodistal myopathy 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030712"
    },
    {
      "id": 26382,
      "label": "oculopharyngodistal myopathy 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21665
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621446"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980937"
    }
  ],
  "roots": [
    {
      "id": 16732,
      "label": "progressive muscular dystrophy"
    },
    {
      "id": 18871,
      "label": "distal myopathy"
    }
  ]
}